ABSTRACT
During a routine ultrasound study on a fetus at 21 weeks, nuchal edema was noted. At 21 weeks, repeat ultrasound study at our unit showed scalp and neck edema and a femur length/biparietal diameter ratio below the mean. Transabdominal chorionic villus sampling identified a 48.XYY, +21 chromosome constitution. The fetus had normal internal/external genitalia and signs of Down syndrome.
Subject(s)
Down Syndrome/diagnostic imaging , Ultrasonography, Prenatal , XYY Karyotype , Female , Humans , Infant, Newborn , Male , Neck/abnormalities , Neck/diagnostic imaging , Pregnancy , Pregnancy Trimester, Second , Scalp/abnormalities , Scalp/diagnostic imagingABSTRACT
Realizamos uma ultra-sonografia de rotina durante a 24ª semana de gestaçäo de uma primipara de 22 anos, demonstrando-se uma anomalia do formato do crânio fetal. Repetimos a ultrasonografia na 26ª semana tendo sido confirmado um estreitamento na fossa anterior do crânio e um espinha bífica na regiäo lombro-sacra. As duas anomalias foram confirmadas no estudo anatomopatológico do feto. Ressaltamos a importância do sinal ultra-sonográfico descrito uma vez que, no Brasil, as dosagens de alfafetoproteína, quer no líquido amniótico ou no soro materno, exibem padröes de confiabilidade para fins de diagnóstico pré-natal
Subject(s)
Humans , Fetus/abnormalities , Prenatal Diagnosis , Spinal Dysraphism/diagnosis , Meningomyelocele/diagnosis , UltrasonographyABSTRACT
We report the results of a study performed in a sample of women with the Mayer-Rokitansky-Küster (MRK) anomaly and in their first-degree relatives. Our results are compatible with a traditional model of multifactorial determination; however, we cannot exclude the hypothesis of autosomal dominant inheritance, with an intermediate degree of penetrance and a highly variable expressivity of a single mutant gene. In this sense, our data seem to support the idea expressed recently by Opitz [1987].
Subject(s)
Abnormalities, Multiple/genetics , Kidney/abnormalities , Female , Humans , PedigreeABSTRACT
We report on the prenatal ultrasound diagnosis of diastrophic dysplasia at 16 wk of gestation. The ultrasound examination showed abnormally short limbs and lateral projection on the thumbs. Radiological and histological studies confirmed the presence of diastrophic dysplasia in the aborted fetus.
Subject(s)
Abnormalities, Multiple/diagnosis , Cleft Palate/diagnosis , Dwarfism/diagnosis , Prenatal Diagnosis , Ultrasonography , Abnormalities, Multiple/genetics , Adult , Cleft Palate/genetics , Clubfoot/diagnosis , Clubfoot/genetics , Dwarfism/genetics , Female , Gestational Age , Humans , PregnancyABSTRACT
A case of thalidomide syndrome diagnosed by ultrasound in the 17th week of pregnancy is presented. The pregnant woman had leprosy and received adjuvant treatment with thalidomide. The affected fetus was exposed to the drug until the 35th day of pregnancy and presented absent external ears, upper limb phocomelia and absent tibiae and fibulae. No internal organ abnormalities were noticed at autopsy.
Subject(s)
Abnormalities, Drug-Induced/diagnosis , Ectromelia/chemically induced , Fetal Diseases/diagnosis , Prenatal Diagnosis , Thalidomide/adverse effects , Adult , Ectromelia/diagnosis , Female , Humans , Pregnancy , UltrasonographyABSTRACT
A case of thalidomide syndrome diagnosed by ultrasound in the 17th weeck of pregnancy is presented. The pregnant woman had leprosy and received adjuvant treatment with thalidomide. The affected fetus was exposed to the drug until the 35th day of pregnancy and presented absent external ears, upper limb phocomelia and absent tibiae and fibulae. No internal organ abnormalities were noticed at autopsy
